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[PNPLA3基因rs738409位点与TM6SF2基因rs58542926位点多态性与中国东北地区汉族人群原发性肝癌的相关性]

[Correlation between PNPLA3 rs738409 and TM6SF2 rs58542926 gene polymorphism and primary liver cancer in the Han Population of China's Northeast region].

作者信息

Bing H, Wang W, Li Y L

机构信息

Department of Gastroenterology, First Affiliated Hospital of China Medical University, Shenyang 110001, China.

Department of Liver and Nephrology, the Sixty People's Hospital of Shenyang, Shenyang 110006, China.

出版信息

Zhonghua Gan Zang Bing Za Zhi. 2021 Feb 20;29(2):156-162. doi: 10.3760/cma.j.cn501113-20191021-00390.

Abstract

To investigate the correlation between patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 and transmembrane 6 superfamily member 2 (TM6SF2) rs58542926 gene polymorphisms and the incidence of primary liver cancer in the Han population of China's Northeast region. A case-control study was used to enroll 521 patients with primary liver cancer as the case group and 164 healthy people as the control group. The case group was divided into groups with and without liver cirrhosis according to etiology. The polymerase chain reaction (PCR) method was used to detect the genetic polymorphisms of PNPLA3 rs738409 and TM6SF2 rs58542926, respectively. Compared with the control group, the frequency distribution of PNPLA3 rs738409 G allele in the case group was significantly different ( = 1.583, = 0.001). Further grouping showed that there was no statistically significant difference between the control and hepatitis C-related liver cancer group ( = 0.161), but there were significant differences in other groups ( < 0.05). Compared with the control group, the frequency of TM6SF2 rs58542926 T allele in the case group was significantly higher than that in the control group ( = 1.759, = 0.048). After grouping, the frequency of CT/TT genotype in the liver cancer group combined with liver cirrhosis and the T allele frequency in the alcohol-related liver cancer group had statistically significant difference ( = 0.045 and 0.032, respectively) when compared with control group. The patients were divided into CG/GG group and CC group, and CT/TT group and CC group according to whether they carried PNPLA3 rs738409 G allele, and TM6SF2 rs58542926 T allele. Results showed that there were no statistically significant differences in liver enzyme indexes, albumin (ALB), total bilirubin (TBIL), alpha-fetoprotein (AFP) and fasting blood glucose between CG/GG group and CC group, and CT/TT group and CC group. The patients with liver cirrhosis in the case group were divided into≥7 groups and < 7 groups according to the Child-Pugh score. Results showed that there were no statistically significant difference in the Child-Pugh score between PNPLA3 rs738409 CG/GG group and CC group patients and TM6SF2 rs58542926 CT/TT group and CC group patients ( > 0.05). PNPLA3 rs738409 and TM6SF2 rs58542926 gene polymorphisms are correlated with the occurrence of primary liver cancer in the Han population of China's Northeast region. PNPLA3 rs738409 and TM6SF2 rs58542926 gene polymorphisms have no effect on indexes' such as liver enzymes, ALB, TBIL, AFP and FBS in primary liver cancer..

摘要

探讨含patatin样磷脂酶结构域3(PNPLA3)基因rs738409和跨膜6超家族成员2(TM6SF2)基因rs58542926多态性与中国东北地区汉族人群原发性肝癌发病的相关性。采用病例对照研究方法,纳入521例原发性肝癌患者作为病例组,164例健康人作为对照组。病例组根据病因分为有肝硬化和无肝硬化组。分别采用聚合酶链反应(PCR)方法检测PNPLA3 rs738409和TM6SF2 rs58542926的基因多态性。与对照组相比,病例组中PNPLA3 rs738409 G等位基因的频率分布有显著差异(χ² = 1.583,P = 0.001)。进一步分组显示,对照组与丙型肝炎相关肝癌组之间差异无统计学意义(χ² = 0.161),但其他组有显著差异(P < 0.05)。与对照组相比,病例组中TM6SF2 rs58542926 T等位基因的频率显著高于对照组(χ² = 1.759,P = 0.048)。分组后,肝癌合并肝硬化组中CT/TT基因型频率及酒精性肝癌组中T等位基因频率与对照组相比有统计学差异(分别为P = 0.045和0.032)。根据是否携带PNPLA3 rs738409 G等位基因,将患者分为CG/GG组和CC组;根据是否携带TM6SF2 rs58542926 T等位基因,分为CT/TT组和CC组。结果显示,CG/GG组与CC组、CT/TT组与CC组之间的肝酶指标、白蛋白(ALB)、总胆红素(TBIL)、甲胎蛋白(AFP)和空腹血糖差异均无统计学意义。病例组中肝硬化患者根据Child-Pugh评分分为≥7分组和< 7分组。结果显示,PNPLA3 rs738409 CG/GG组与CC组患者、TM6SF2 rs58542926 CT/TT组与CC组患者之间的Child-Pugh评分差异无统计学意义(P > 0.05)。PNPLA3 rs738409和TM6SF2 rs58542926基因多态性与中国东北地区汉族人群原发性肝癌的发生相关。PNPLA3 rs738409和TM6SF2 rs58542926基因多态性对原发性肝癌患者的肝酶、ALB、TBIL、AFP和空腹血糖等指标无影响。

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